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MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1

Known as: MCCRP1, Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by… 
National Institutes of Health

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9 relations
Autosomal recessive inheritanceCerebellar HypoplasiaCerebral atrophyChorioretinopathy

Papers overview

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2020
2020
TUBGCP4 – associated microcephaly and chorioretinopathy
ABSTRACT Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly… 
2016
2016
Familial Cases of birdshot Chorioretinopathy: genetic and epidemiology
1985
1985
Abstract from “No to Hattatsu” vol. 16, pages 309–491, 1984 Abstracts from “No to Hattatsu”
1978
1978
Aicardi's syndrome; radiologic manifestations.
Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the… 
1972
1972
The Aicardi Syndrome
A case of Aicardi's syndrome is described. The main features are infantile spasms, pathognomonic chorioretinopathy, evidence of… 
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